G47D (p.Gly47Asp) variant of CYP1A2 (Cytochrome P450 1A2)
G47D (p.Gly47Asp) in CYP1A2 (Cytochrome P450 1A2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G47D (p.Gly47Asp) variant details
- p.Gly47Asp
- ExAC rs777457540
- gnomAD rs777457540
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.33
- CADD 22.80
- PolyPhen-2 0.05
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available